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Updated: Aug 13, 2026

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Published on: October 25, 2018
Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis
Claire Vandiedonck1, Claire Capdevielle, Matthieu Giraud
1Institut National de la Santé et de la Recherche Médicale, Université Paris-Descartes, France.
Objective:
Our objective was to investigate a role of the intracellular tyrosine phosphatase PTPN22*R620W variant in autoimmune myasthenia gravis (MG), considering disease heterogeneity.
Methods:
We used a case-control design, comparing 470 patients and 296 controls, all French whites. Patients were categorized depending on the presence of a thymoma and serum anti-titin antibodies.
Results:
The 620W risk allele was increased in 293 nonthymoma patients without anti-titin antibodies (odds ratio, 1.97; 95% confidence interval, 1.32-2.97, p = 0.00059) but not in nonthymoma patients with anti-titin antibodies or in thymoma patients.
Interpretation:
Our genetic findings strengthen the concept that these groups of patients correspond to etiologically distinct disease entities.
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Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life